AAAS
MCID: ACH022
MIFTS: 65

Achalasia-Addisonianism-Alacrima Syndrome (AAAS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Achalasia-Addisonianism-Alacrima Syndrome

MalaCards integrated aliases for Achalasia-Addisonianism-Alacrima Syndrome:

Name: Achalasia-Addisonianism-Alacrima Syndrome 56 25 58 73
Allgrove Syndrome 56 12 52 25 58 73 54
Achalasia-Addisonianism-Alacrimia Syndrome 56 12 74 13 39
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder 56 52 25 73
Triple-a Syndrome 56 12 73 15
Triple a Syndrome 74 52 25 58
Glucocorticoid Deficiency with Achalasia 29 6 71
Aaa Syndrome 52 25 58
Glucocorticoid Deficiency and Achalasia 56 73
Alacrima-Achalasia-Addisonianism 56 73
Addisonian-Achalasia Syndrome 56 73
Hypoadrenalism with Achalasia 56 73
Aaas 56 73
Aaa 52 25
Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima 73
Acth-Resistant Adrenal Insufficiency, Achalasia and Alacrima 56
Adrenal Insufficiency-Achalasia-Alacrima Syndrome 58
Achalasia Addisonianism Alacrimia Syndrome 52
Achalasia Addisonianism Alacrima Syndrome 36
Adrenal Cortical Hypofunction 71
Addisonian Achalasia Syndrome 52
Achalasia-Addisonian Syndrome 25
Achalasia Alacrima Syndrome 52
Achalasia-Alacrima Syndrome 25
Adrenal Gland Hypofunction 71
Quaternary a Syndrome 58
Adrenal Insufficiency 43
Allgrove's Syndrome 73
Double a Syndrome 58
2a Syndrome 58
3a Syndrome 58
4a Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
triple a syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
adrenal insufficiency usually develops later (first decade)
neurologic symptoms may develop decades later
variable neurologic phenotype


HPO:

31
achalasia-addisonianism-alacrima syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Achalasia-Addisonianism-Alacrima Syndrome

Genetics Home Reference : 25 Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two. Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time. People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

MalaCards based summary : Achalasia-Addisonianism-Alacrima Syndrome, also known as allgrove syndrome, is related to adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete and adrenal hypoplasia, congenital, and has symptoms including ataxia and muscle weakness. An important gene associated with Achalasia-Addisonianism-Alacrima Syndrome is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are HIV Life Cycle and Cell Cycle, Mitotic. The drugs Eplerenone and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include testes, pituitary and adrenal gland, and related phenotypes are seizures and achalasia

Disease Ontology : 12 An autosomal recessive disease characterized by achalasia, adrenal insufficiency and alacrima and has material basis in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.

NIH Rare Diseases : 52 Triple A syndrome is an inherited condition characterized by three specific features: achalasia , Addison disease , and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension . Affected individuals may also have developmental delay , intellectual disability , speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy , and optic atrophy . Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy . Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement .

KEGG : 36 Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome.

UniProtKB/Swiss-Prot : 73 Achalasia-addisonianism-alacrima syndrome: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.

Wikipedia : 74 Triple-A syndrome or AAA syndrome, is a rare autosomal recessive congenital disorder. In most cases,... more...

More information from OMIM: 231550

Related Diseases for Achalasia-Addisonianism-Alacrima Syndrome

Diseases related to Achalasia-Addisonianism-Alacrima Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 818)
# Related Disease Score Top Affiliating Genes
1 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 34.5 STAR POMC NR0B1 NNT
2 adrenal hypoplasia, congenital 33.0 STAR POMC NR0B1 MC2R
3 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 32.5 TXNRD2 NR0B1 NNT MCM4 MC2R
4 lipoid congenital adrenal hyperplasia 32.2 STAR POMC NR0B1 MC2R CYP11B1
5 achalasia 31.2 TRAPPC11 MC2R GMPPA AAAS
6 waterhouse-friderichsen syndrome 30.6 POMC MC2R
7 graves disease 1 30.5 TXNRD2 POMC
8 glucocorticoid deficiency 1 30.4 POMC MC2R
9 adrenal cortical carcinoma 30.4 POMC MC2R CYP11B1
10 sex development disorder 30.4 STAR POMC CYP11B1
11 adrenal adenoma 30.3 POMC MC2R CYP11B1
12 cryptorchidism, unilateral or bilateral 30.2 STAR POMC NR0B1
13 adrenal cortical adenoma 30.2 POMC MC2R CYP11B1
14 pseudohermaphroditism 30.1 STAR POMC NR0B1
15 cortisone reductase deficiency 30.0 POMC NNT
16 premature ovarian failure 1 30.0 STAR POMC NR0B1
17 adrenal cortical hypofunction 30.0 POMC NR0B1 MC2R
18 adrenal rest tumor 30.0 POMC MC2R CYP11B1
19 hypoadrenocorticism, familial 29.7 STAR POMC NR0B1 MC2R
20 adrenal gland disease 29.7 POMC NR0B1 MC2R CYP11B1
21 familial glucocorticoid deficiency 29.7 TXNRD2 STAR POMC NR0B1 NNT MC2R
22 apparent mineralocorticoid excess 29.5 POMC CYP11B1
23 obesity, early-onset, with adrenal insufficiency and red hair 12.8
24 secondary adrenal insufficiency 12.8
25 chronic primary adrenal insufficiency 12.5
26 aortic aneurysm, familial abdominal, 1 12.4
27 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 12.3
28 genetic chronic primary adrenal insufficiency 12.3
29 acquired chronic primary adrenal insufficiency 12.3
30 nephrotic syndrome, type 14 12.2
31 immunodeficiency 54 12.1
32 immunodeficiency, common variable, 10 12.0
33 aortic aneurysm 11.7
34 autoimmune addison disease 11.6
35 sphingosine phosphate lyase insufficiency syndrome 11.6
36 inclusion body myopathy with paget disease of bone and frontotemporal dementia 11.6
37 acth deficiency, isolated 11.5
38 autoimmune polyendocrine syndrome, type ii 11.5
39 mirage syndrome 11.5
40 glycerol kinase deficiency 11.5
41 pituitary apoplexy 11.5
42 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.5
43 stiff-person syndrome 11.5
44 adrenomyodystrophy 11.5
45 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 11.5
46 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.4
47 alacrima, achalasia, and mental retardation syndrome 11.4
48 alopecia, neurologic defects, and endocrinopathy syndrome 11.3
49 x-linked cerebral adrenoleukodystrophy 11.3
50 polyneuropathy 11.3

Graphical network of the top 20 diseases related to Achalasia-Addisonianism-Alacrima Syndrome:



Diseases related to Achalasia-Addisonianism-Alacrima Syndrome

Symptoms & Phenotypes for Achalasia-Addisonianism-Alacrima Syndrome

Human phenotypes related to Achalasia-Addisonianism-Alacrima Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 achalasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002571
3 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
4 adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000846
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
7 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
8 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
9 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
10 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
11 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
12 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
13 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
16 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
17 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
18 anterior hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000830
19 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
20 abnormality of the calf musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001430
21 plantar hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007556
22 abnormality of the hypothenar eminence 58 31 occasional (7.5%) Occasional (29-5%) HP:0010486
23 intellectual disability 31 HP:0001249
24 dysarthria 31 HP:0001260
25 muscle weakness 31 HP:0001324
26 global developmental delay 31 HP:0001263
27 abnormality of visual evoked potentials 31 HP:0000649
28 babinski sign 31 HP:0003487
29 decreased circulating aldosterone level 31 HP:0004319
30 decreased circulating cortisol level 31 HP:0008163
31 hyperpigmentation of the skin 31 HP:0000953
32 alacrima 31 HP:0000522
33 orthostatic hypotension 31 HP:0001278
34 abnormal autonomic nervous system physiology 31 HP:0012332
35 palmoplantar hyperkeratosis 31 HP:0000972
36 anisocoria 31 HP:0009916
37 adrenocorticotropin receptor defect 31 HP:0008259

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
dysarthria
muscle weakness
hyperreflexia
anisocoria
more
Head And Neck Head:
microcephaly

Neurologic Peripheral Nervous System:
motor axonal neuropathy

Skin Nails Hair Skin:
hyperpigmentation
hyperkeratosis of the palms and soles
abnormal sweating due to autonomic dysfunction

Muscle Soft Tissue:
distal muscle weakness and atrophy

Laboratory Abnormalities:
schirmer test shows alacrima

Growth Height:
short stature

Head And Neck Eyes:
optic atrophy
alacrima
anisocoria due to autonomic dysfunction

Abdomen Gastrointestinal:
achalasia

Cardiovascular:
abnormal cardiovascular reflexes due to autonomic dysfunction
postural hypotension

Endocrine Features:
adrenocorticotropic hormone (acth)-resistant adrenal insufficiency
glucocorticoid insufficiency
mineralocorticoid insufficiency (in 15%)

Clinical features from OMIM:

231550

UMLS symptoms related to Achalasia-Addisonianism-Alacrima Syndrome:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Achalasia-Addisonianism-Alacrima Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.9 AAAS CYP11B1 LIG1 MC2R MCM4 NDC1
2 hematopoietic system MP:0005397 9.65 FTH1 LIG1 MC2R MCM4 NR0B1 NUP210
3 homeostasis/metabolism MP:0005376 9.4 AAAS APTX CYP11B1 FTH1 IPO11 LIG1

Drugs & Therapeutics for Achalasia-Addisonianism-Alacrima Syndrome

Drugs for Achalasia-Addisonianism-Alacrima Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
5
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
6
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
tannic acid Approved Phase 4 1401-55-4
9
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11
Sodium citrate Approved, Investigational Phase 4 68-04-2
12
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
13
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
15
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
16 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
17
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
18
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
19
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
20 Mineralocorticoid Receptor Antagonists Phase 4
21 Diuretics, Potassium Sparing Phase 4
22 Adrenocorticotropic Hormone Phase 4
23 Triamcinolone diacetate Phase 4
24 triamcinolone acetonide Phase 4
25 Triamcinolone hexacetonide Phase 4
26 Omega 3 Fatty Acid Phase 4
27 Contraceptive Agents Phase 4
28 Central Nervous System Stimulants Phase 4
29 Contraceptives, Oral Phase 4
30
Megestrol Phase 4 3562-63-8 3080587 19090
31 Appetite Stimulants Phase 4
32 Narcotics Phase 4
33 Analgesics Phase 4
34 Analgesics, Opioid Phase 4
35 Anesthetics, General Phase 4
36 Central Nervous System Depressants Phase 4
37 Adjuvants, Anesthesia Phase 4
38 Anesthetics, Intravenous Phase 4
39 Tin Fluorides Phase 4
40 Fluorodeoxyglucose F18 Phase 4
41 Citrate Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 Anesthetics, Dissociative Phase 4
44 Excitatory Amino Acids Phase 4
45 Methylprednisolone Acetate Phase 4
46 Protective Agents Phase 4
47 Neuroprotective Agents Phase 4
48
Zinc Approved, Investigational Phase 3 7440-66-6 32051
49
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
50
Midodrine Approved Phase 3 133163-28-7, 42794-76-3 4195

Interventional clinical trials:

(show top 50) (show all 216)
# Name Status NCT ID Phase Drugs
1 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
2 Optimising Steroid Replacement in Patients With Adrenal Insufficiency Unknown status NCT03282487 Phase 4 Modified release hydrocortisone
3 Eplerenone in the Management of Abdominal Aortic Aneurysms: A Proof-Of-Concept Randomised Controlled Trial Unknown status NCT02345590 Phase 4 Eplerenone
4 Effect of Modified-release Compared to Conventional Hydrocortisone on Fatigue, Measured by Ecological Momentary Assessments; a Pilot Study. Unknown status NCT02282150 Phase 4 Hydrocortisone;Plenadren
5 The Effect of 6-Methyl-Prednisolone on Organ Dysfunction and Mortality of Patients With Unresolving Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
6 Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers Completed NCT00975078 Phase 4 prednisone
7 A Randomized Double Blind Cross-over Study of the Effects of Low Dose and High Dose Hydrocortisone Replacement Therapy on Cognition, Quality of Life, Metabolic Profile and Somatosensation in Patients With Secondary Adrenal Insufficiency Completed NCT01546922 Phase 4 Hydrocortisone
8 A Randomized, Controlled, Multi-Centre Trial on the Effects of Dual-release Hydrocortisone Preparations Versus Conventional Glucocorticoid Replacement Therapy in Patients Affected by Primary and Secondary Adrenal Insufficiency. DREAM Trial. Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
9 Low-dose Hydrocortisone in the Treatment of the Shock of Burned Patients Completed NCT00149123 Phase 4 hydrocortisone 200 mg/day
10 TALENT Endoluminal Stent Graft System for the Treatment of Abdominal Aortic Aneurysms Completed NCT00803075 Phase 4
11 Post Operative Hemodynamic Function After Anesthetic Induction With Etomidate for Cardiac Surgery With ECC. A Prospective, Monocentric, Randomised Double Blind Study Completed NCT00451776 Phase 4 etomidate;propofol
12 Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease Completed NCT01371526 Phase 4 depot tetracosactide
13 Efficiency and Safety Study of Short-term Prednisone to Treat Moderate and Severe Subacute Thyroiditis Completed NCT01837433 Phase 4 Prednisone 1 week;Prednisone 6 weeks
14 The Effect of Moderate-Dose Steroid Therapy in Sepsis: A Placebo-Controlled, Randomized Study Completed NCT01275638 Phase 4 Prednisolone
15 The Effect of Reduced Corticosteroid Therapy in Patients With Acute Exacerbation of COPD Completed NCT02857842 Phase 4 Prednisolone
16 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
17 Steroid Use in Pediatric Fluid and Vasoactive Infusion Dependent Shock - Pilot Study (STRIPES) Completed NCT02044159 Phase 4 Hydrocortisone
18 Omega-3 Fatty Acids in Bariatric Gastric Bypass Surgery: Effect on Liver Volume, Immune Response and Erythrocyte Function Completed NCT02206256 Phase 4 Omega-3 fatty acid capsules
19 Evaluation of Efficacy and Hypothalamus-pituitary-adrenal Axis Suppression Due to a Single Intrabursal Injection of Corticosteroids in Patients With Shoulder Calcific Tendinopathy Completed NCT01652495 Phase 4 methylprednisolone acetate;Triamcinolone Acetonide
20 Congenital Adrenal Hyperplasia: Innovative Once Daily Dual Release Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
21 Comparison of Two Strategies of Glucocorticoid Withdrawal in Rheumatoid Arthritis Patients in Low Disease Activity or Remission. Recruiting NCT02997605 Phase 4 GlucoCorticoid
22 Glucocorticoid Withdrawal and Glucocorticoid-induced Adrenal Insufficiency: a Randomized Controlled Multicenter Trial Recruiting NCT03153527 Phase 4 Prednisone
23 Noninvasive Assessment of Abdominal Aortic Aneurysm (AAA) Wall Structural Integrity and Inflammation as Predictors of Expansion and/or Rupture Recruiting NCT03231397 Phase 4 Assess AAA rupture risk by PET-CTA scans;18F-fludeoxyglucose (FDG)
24 A Combination Study With Sub-Dissociative Ketamine and Fentanyl to Treat Moderate to Severe Pain in the Emergency Department Recruiting NCT03959852 Phase 4 Fentanyl;Ketamine
25 iKanEat: A Randomized-controlled, Multi-center Trial of Megestrol for Chronic Oral Food Refusal in Children 9 Months to 5 Years 6 Months of Age Recruiting NCT03815019 Phase 4 Megestrol Acetate
26 A Dose-response Study of Markers of Glucocorticoid Effects (DOSCORT): A Single-blinded, Randomized, 2-dose, Cross-over Study Not yet recruiting NCT03210545 Phase 4 Dexamethasone
27 An Open-label, Prospective, Randomized, Controlled Clinical Trial of the Use of Reduced Duration Versus Standard Duration Steroid Replacement Therapy for Acute Adrenal Insufficiency in Patients With Septic Shock Terminated NCT00842933 Phase 4 Corticosteroid;Corticosteroid
28 Phase IV Study to Evaluate the Neuropsychological Effects of Hydrocortisone Substitution in Patients With Partial Adrenal Insufficiency After Traumatic Brain Injury or Subarachnoidal Haemorrhage Terminated NCT01089075 Phase 4 Hydrocortisone;Placebo
29 Hemodynamic and Inflammatory Effects of Abrupt Versus Tapered Corticosteroid Discontinuation in Septic Shock Terminated NCT01150409 Phase 4 hydrocortisone;Normal Saline
30 A Blinded, Placebo Controlled Trial of Hydrocortisone Versus Hydrocortisone Plus Fludrocortisone for the Treatment of Adrenal Insufficiency in Severe Sepsis Withdrawn NCT00368381 Phase 4 Hydrocortisone
31 Comparison of Intramuscular and Intravenous ACTH Stimulation Test in Normal Volunteers Withdrawn NCT03752190 Phase 4 Cosyntropin
32 The Effect of Dexamethasone on Plasma Cortisol Levels, Pain and PONV in Female Patients Undergoing Thyroid Surgery Withdrawn NCT01045876 Phase 4 Dexamethasone
33 Magnetic Resonance Imaging of Aortic Aneurysm Instability Unknown status NCT00794092 Phase 2, Phase 3 Sinerem administration
34 Supplemental Corticosteroids in Cirrhotic Hypotensive Patients With Suspicion of Sepsis Unknown status NCT02602210 Phase 3 Hydrocortisone;NaCL 0.9%
35 Reposição de Esteróides em Crianças Com Choque Séptico Unknown status NCT01047670 Phase 2, Phase 3 Hydrocortisone
36 Expertise Based Randomized Controlled Trial of Open Versus Endovascular Repair of Abdominal Aortic Aneurysms: A Pilot Study Unknown status NCT00358085 Phase 3
37 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
38 Dehydroepiandrosterone(DHEA) Substitution in Adolescent and Young Women With Central Adrenal Insufficiency. A Multicenter, Randomised Double Blind Trial Completed NCT00575341 Phase 3 Dehydroepiandrosterone;placebo
39 A, Randomised, Controlled, Two-armed, Two-period Cross-over, Multi-centre Phase II/III Study to Assess the Safety and Pharmacokinetics of Once-daily Oral Modified-release Hydrocortisone in Patients With Adrenal Insufficiency Completed NCT00915343 Phase 2, Phase 3 hydrocortisone (modified release), oral tablet 20 and 5 mg;Hydrocortisone, oral tablet, 10 mg
40 Open-label, Long-term Follow-up of Safety and Biochemical Disease Control of Infacort® in Neonates, Infants and Children With Congenital Adrenal Hyperplasia and Adrenal Insufficiency Previously Enrolled in the Infacort 003 Study Completed NCT02733367 Phase 3 Infacort®
41 A Phase 3 Open-label Study of Infacort® in Neonates, Infants and Children Less Than 6 Years of Age With Adrenal Insufficiency Completed NCT02720952 Phase 3 Infacort®
42 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Completed NCT03368066 Phase 3 Cosyntropin
43 Opothérapie Par Hydrocortisone après Injection Unique d'Etomidate Chez le Patient de réanimation Completed NCT00862381 Phase 3 Hydrocortisone;Placebo
44 Midodrine for the Treatment of Refractory Hypotension in Patients Otherwise Ready for Discharge From the ICU Completed NCT01531959 Phase 3 Midodrine;Placebo
45 Phase 3 Study of Hydrocortisone and Fludrocortisone in Glucocorticoid Insufficiency Related to Traumatic Brain Injury Completed NCT01093261 Phase 3 Placebo;Hydrocortisone Fludrocortisone
46 Corticosteroid Therapy of Septic Shock - Corticus. A Multi-National, Prospective, Double-Blind, Randomized, Placebo-Controlled Study Completed NCT00147004 Phase 3 hydrocortisone sodium succinate;Placebo
47 Phase 3 Study of Corticotherapy (Hydrocortisone Alone Versus Hydrocortisone Plus Fludrocortisone) Versus Corticotherapy Plus Intensive Insulin Therapy for Septic Shock Completed NCT00320099 Phase 3 recombinant human insulin;hydrocortisone;fludrocortisone;Hydrocortisone
48 MEA115575: A Randomised, Double-Blind, Placebo-Controlled, Parallel-Group, Multicenter Study of Mepolizumab Adjunctive Therapy to Reduce Steroid Use in Subjects With Severe Refractory Asthma Completed NCT01691508 Phase 3 Mepolizumab;Placebo;OCS (prednisone/prednisolone)
49 Early Use of Hydrocortisone in Hypotensive Very Low Birth Weight Infants Completed NCT00358748 Phase 3 Hydrocortisone
50 Early Prevention of Broncho-pulmonary Dysplasia and Neonatal Mortality in Very Preterm Infants Using Low Dose of Hydrocortisone: a Randomized Controlled Trial Completed NCT00623740 Phase 3 hydrocortisone;placebo

Search NIH Clinical Center for Achalasia-Addisonianism-Alacrima Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cortisone
cortisone acetate
Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR
prasterone
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR
Triamcinolone
Triamcinolone Acetonide
TRIAMCINOLONE ACETONIDE PWDR
triamcinolone diacetate
triamcinolone hexacetonide

Cochrane evidence based reviews: adrenal insufficiency

Genetic Tests for Achalasia-Addisonianism-Alacrima Syndrome

Genetic tests related to Achalasia-Addisonianism-Alacrima Syndrome:

# Genetic test Affiliating Genes
1 Glucocorticoid Deficiency with Achalasia 29

Anatomical Context for Achalasia-Addisonianism-Alacrima Syndrome

MalaCards organs/tissues related to Achalasia-Addisonianism-Alacrima Syndrome:

40
Testes, Pituitary, Adrenal Gland, Brain, Eye, Kidney, Skin

Publications for Achalasia-Addisonianism-Alacrima Syndrome

Articles related to Achalasia-Addisonianism-Alacrima Syndrome:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Mutant WD-repeat protein in triple-A syndrome. 6 56 54 61
11062474 2000
2
Triple A syndrome: genotype-phenotype assessment. 61 6 56
12752575 2003
3
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. 56 6
18628786 2008
4
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. 56 6
11914417 2002
5
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 6 56
11159947 2001
6
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. 6 54 61
11701718 2001
7
Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. 61 54 56
1850671 1991
8
Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa. 6 61
18261130 2008
9
A case of Allgrove (Triple A) syndrome associated with renal ectopia. 56 61
12150219 2002
10
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome. 56 61
10951524 2000
11
Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. 61 56
9285947 1997
12
Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests. 56 61
8757578 1996
13
Molecular insights into inherited ACTH resistance syndromes. 56 54
18407210 1994
14
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 6
24035193 2013
15
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. 56
16098009 2005
16
Estimating the age of rare disease mutations: the example of Triple-A syndrome. 6
15173230 2004
17
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. 56
12473793 2002
18
Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. 56
8968764 1996
19
The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. 56
7895750 1995
20
Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes. 56
8006362 1994
21
Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. 56
1537368 1992
22
Three sibs with achalasia and alacrimia: a separate entity different from triple-A syndrome. 56
2817011 1989
23
Familial achalasia with absent tear production. 56
3351712 1988
24
Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. 56
3565479 1987
25
Infantile achalasia associated with deficient tear production. 56
4067228 1985
26
Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. 56
6243664 1980
27
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. 56
78049 1978
28
Familial achalasia with pulmonary complications in children. 56
4695913 1973
29
Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone. 56
4342294 1972
30
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. 61 54
19322026 2009
31
Heterogeneity in the molecular basis of ACTH resistance syndrome. 61 54
18426811 2008
32
[Allgrove syndrome in the mainland of China: clinical report and mutation analysis]. 61 54
17880786 2007
33
Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. 61 54
16938764 2006
34
Mutations of the AAAS gene in an Indian family with Allgrove's syndrome. 54 61
16937455 2006
35
Familial occurrence of adrenocortical insufficiency in two brothers with Allgrove syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAS gene mutation. 61 54
16264411 2005
36
Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. 54 61
16022285 2005
37
Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus. 54 61
15843079 2005
38
The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. 61 54
15690314 2005
39
Two cases of Allgrove syndrome with mutations in the AAAS gene. 61 54
15516781 2004
40
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. 61 54
15217518 2004
41
[From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome]. 54 61
12497758 2002
42
Proteomic analysis of the mammalian nuclear pore complex. 61 54
12196509 2002
43
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome. 61
31600784 2019
44
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 61
31435881 2019
45
Endoscopic Management of Recurrent Dysphagia in a Patient With Allgrove Syndrome. 61
27683965 2019
46
Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach. 61
31695556 2019
47
Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report. 61
30501443 2018
48
Allgrove syndrome: case report of 7 years old boy from Bahawalpur. 61
30108399 2018
49
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. 61
29383495 2018
50
Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report. 61
29866068 2018

Variations for Achalasia-Addisonianism-Alacrima Syndrome

ClinVar genetic disease variations for Achalasia-Addisonianism-Alacrima Syndrome:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AAAS NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)SNV Pathogenic 5039 rs121918547 12:53702942-53702942 12:53309158-53309158
2 AAAS NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)SNV Pathogenic 5040 rs121918548 12:53701482-53701482 12:53307698-53307698
3 AAAS NM_015665.6(AAAS):c.980dup (p.Ser328fs)duplication Pathogenic 5041 rs387906326 12:53702760-53702760 12:53308976-53308976
4 AAAS NM_015665.6(AAAS):c.400-2A>GSNV Pathogenic 5042 rs1565781382 12:53708926-53708926 12:53315142-53315142
5 AAAS NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)SNV Pathogenic 5044 rs121918549 12:53715207-53715207 12:53321423-53321423
6 AAAS NM_015665.6(AAAS):c.1087+1G>ASNV Pathogenic 5046 rs1035139364 12:53702508-53702508 12:53308724-53308724
7 AAAS NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe)SNV Pathogenic 5047 rs121918551 12:53701879-53701879 12:53308095-53308095
8 AAAS NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)SNV Pathogenic 5048 rs754637718 12:53714349-53714349 12:53320565-53320565
9 AAAS NM_015665.6(AAAS):c.938T>C (p.Val313Ala)SNV Pathogenic 202169 rs773601814 12:53702802-53702802 12:53309018-53309018
10 AAAS NM_015665.6(AAAS):c.1331+1G>ASNV Pathogenic 264994 rs150511103 12:53701835-53701835 12:53308051-53308051
11 AAAS NC_000012.12:g.53306793_53321761deldeletion Pathogenic 619949 12:53306793-53321761
12 AAAS NM_015665.6(AAAS):c.1140_1143TCTG[1] (p.Ser382fs)short repeat Pathogenic/Likely pathogenic 264993 rs770214071 12:53702253-53702256 12:53308469-53308472
13 AAAS NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)SNV Pathogenic/Likely pathogenic 5045 rs121918550 12:53703408-53703408 12:53309624-53309624
14 AAAS NM_015665.6(AAAS):c.936_937del (p.Val313Leufs)short repeat Likely pathogenic 638496 12:53702803-53702804 12:53309019-53309020
15 AAAS NM_015665.6(AAAS):c.679T>C (p.Leu227=)SNV Conflicting interpretations of pathogenicity 128251 rs80027466 12:53708092-53708092 12:53314308-53314308
16 AAAS NM_015665.6(AAAS):c.259G>T (p.Val87Leu)SNV Uncertain significance 309737 rs766985003 12:53709559-53709559 12:53315775-53315775
17 AAAS NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)SNV Uncertain significance 309738 rs749899811 12:53709560-53709560 12:53315776-53315776
18 AAAS NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)SNV Uncertain significance 309743 rs886049652 12:53715239-53715239 12:53321455-53321455
19 AAAS NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)SNV Uncertain significance 309723 rs886049649 12:53701416-53701416 12:53307632-53307632
20 AAAS NM_015665.6(AAAS):c.1416+8C>TSNV Uncertain significance 309725 rs370325323 12:53701621-53701621 12:53307837-53307837
21 AAAS NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)SNV Uncertain significance 309726 rs112579822 12:53701866-53701866 12:53308082-53308082
22 AAAS NM_015665.6(AAAS):c.996+12C>TSNV Uncertain significance 309729 rs200312077 12:53702732-53702732 12:53308948-53308948
23 AAAS NM_015665.6(AAAS):c.939C>T (p.Val313=)SNV Uncertain significance 309730 rs79881935 12:53702801-53702801 12:53309017-53309017
24 AAAS NM_015665.6(AAAS):c.663C>G (p.Thr221=)SNV Uncertain significance 309734 rs886049650 12:53708108-53708108 12:53314324-53314324
25 AAAS NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)SNV Uncertain significance 309724 rs764298213 12:53701464-53701464 12:53307680-53307680
26 AAAS NM_015665.6(AAAS):c.912T>G (p.Ala304=)SNV Uncertain significance 309731 rs138749872 12:53702964-53702964 12:53309180-53309180
27 AAAS NM_015665.6(AAAS):c.63C>G (p.His21Gln)SNV Uncertain significance 309742 rs200408293 12:53715187-53715187 12:53321403-53321403
28 AAAS NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)SNV Uncertain significance 309719 rs886049647 12:53701323-53701323 12:53307539-53307539
29 AAAS NM_015665.6(AAAS):c.894C>T (p.Asp298=)SNV Uncertain significance 309732 rs199636211 12:53702982-53702982 12:53309198-53309198
30 AAAS NM_015665.6(AAAS):c.333C>T (p.Ser111=)SNV Uncertain significance 309736 rs146770218 12:53709185-53709185 12:53315401-53315401
31 AAAS NM_015665.6(AAAS):c.124-4A>GSNV Uncertain significance 309740 rs886049651 12:53714480-53714480 12:53320696-53320696
32 AAAS NM_015665.6(AAAS):c.-84G>ASNV Uncertain significance 309745 rs886049653 12:53715333-53715333 12:53321549-53321549
33 AAAS NM_015665.6(AAAS):c.1566C>T (p.Ser522=)SNV Uncertain significance 309720 rs886049648 12:53701348-53701348 12:53307564-53307564
34 AAAS NM_015665.6(AAAS):c.1249+8G>ASNV Uncertain significance 309727 rs200834285 12:53702058-53702058 12:53308274-53308274
35 AAAS NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)SNV Uncertain significance 309728 rs200871966 12:53702071-53702071 12:53308287-53308287
36 AAAS NM_015665.6(AAAS):c.843C>G (p.Pro281=)SNV Uncertain significance 309733 rs145196232 12:53703033-53703033 12:53309249-53309249
37 AAAS NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)SNV Uncertain significance 309741 rs774899476 12:53715185-53715185 12:53321401-53321401
38 AAAS NM_015665.6(AAAS):c.-73G>ASNV Uncertain significance 309744 rs561616104 12:53715322-53715322 12:53321538-53321538
39 AAAS NM_015665.6(AAAS):c.-130C>TSNV Uncertain significance 309746 rs149864679 12:53715379-53715379 12:53321595-53321595
40 AAAS NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)SNV Uncertain significance 427742 rs1114167372 12:53714400-53714400 12:53320616-53320616
41 AAAS NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)SNV Uncertain significance 631684 rs751369041 12:53701867-53701867 12:53308083-53308083
42 AAAS NM_015665.6(AAAS):c.936-2A>GSNV Uncertain significance 631685 rs1565777639 12:53702806-53702806 12:53309022-53309022
43 TBX19 NM_005149.3(TBX19):c.210G>T (p.Met70Ile)SNV Uncertain significance 633477 rs1558190316 1:168260404-168260404 1:168291166-168291166
44 TBX19 NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)SNV Uncertain significance 633476 rs1558190989 1:168262390-168262390 1:168293152-168293152
45 AAAS NM_015665.6(AAAS):c.1515T>C (p.Pro505=)SNV Likely benign 309722 rs35282133 12:53701399-53701399 12:53307615-53307615
46 AAAS NM_015665.5(AAAS):c.*32C>TSNV Likely benign 309717 rs138994144 12:53701241-53701241 12:53307457-53307457
47 AAAS NM_015665.6(AAAS):c.414T>C (p.Asp138=)SNV Likely benign 309735 rs11540353 12:53708910-53708910 12:53315126-53315126
48 AAAS NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)SNV Likely benign 309718 rs34451260 12:53701317-53701317 12:53307533-53307533
49 AAAS NM_015665.6(AAAS):c.1557T>C (p.Thr519=)SNV Likely benign 309721 rs112987708 12:53701357-53701357 12:53307573-53307573
50 AAAS NM_015665.6(AAAS):c.234G>A (p.Lys78=)SNV Likely benign 309739 rs145519240 12:53714366-53714366 12:53320582-53320582

UniProtKB/Swiss-Prot genetic disease variations for Achalasia-Addisonianism-Alacrima Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 AAAS p.Gln15Lys VAR_012804 rs121918549
2 AAAS p.His160Arg VAR_012805 rs129783112
3 AAAS p.Ser263Pro VAR_012806 rs121918550

Expression for Achalasia-Addisonianism-Alacrima Syndrome

Search GEO for disease gene expression data for Achalasia-Addisonianism-Alacrima Syndrome.

Pathways for Achalasia-Addisonianism-Alacrima Syndrome

Pathways related to Achalasia-Addisonianism-Alacrima Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 POMC NUP62 NUP35 NUP210 NDC1 MC2R
2
Show member pathways
13.24 NUP62 NUP35 NUP210 NDC1 MCM4 LIG1
3
Show member pathways
12.9 TXNRD2 NUP62 NUP35 NUP210 NDC1 AAAS
4
Show member pathways
12.71 STAR POMC NR0B1 MC2R CYP11B1
5
Show member pathways
12.67 NUP62 NUP35 NUP210 NDC1 AAAS
6
Show member pathways
12.5 NUP62 NUP35 NUP210 NDC1 AAAS
7
Show member pathways
12.45 NUP62 NUP35 NUP210 NDC1 AAAS
8
Show member pathways
12.33 NUP62 NUP35 NUP210 NDC1 AAAS
9
Show member pathways
12.26 NUP62 NUP35 NUP210 NDC1 AAAS
10
Show member pathways
12.09 NUP62 NUP35 NUP210 NDC1 AAAS
11
Show member pathways
11.89 NUP62 NUP35 NUP210 NDC1 AAAS
12 11.77 NUP62 NUP35 NUP210 NDC1 AAAS
13 11.65 STAR POMC CYP11B1
14
Show member pathways
11.62 STAR POMC CYP11B1
15
Show member pathways
11.57 NUP62 NUP35 NUP210 NDC1 AAAS
16
Show member pathways
11.02 NUP62 NUP35 NUP210 NDC1 AAAS

GO Terms for Achalasia-Addisonianism-Alacrima Syndrome

Cellular components related to Achalasia-Addisonianism-Alacrima Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.65 NUP62 NUP35 NUP210 NDC1 AAAS
2 nuclear pore GO:0005643 9.55 NUP62 NUP35 NUP210 NDC1 AAAS
3 host cell GO:0043657 9.35 NUP62 NUP35 NUP210 NDC1 AAAS
4 nuclear pore central transport channel GO:0044613 9.32 NUP62 NUP35
5 nuclear envelope GO:0005635 9.17 PGRMC2 NUP62 NUP35 NUP210 NDC1 IPO11

Biological processes related to Achalasia-Addisonianism-Alacrima Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.97 NUP62 NUP35 NUP210 NDC1 IPO11 AAAS
2 viral process GO:0016032 9.95 NUP62 NUP35 NUP210 NDC1 AAAS
3 mRNA transport GO:0051028 9.85 NUP62 NUP35 NUP210 NDC1 AAAS
4 viral transcription GO:0019083 9.83 NUP62 NUP35 NUP210 NDC1 AAAS
5 mRNA export from nucleus GO:0006406 9.8 NUP62 NUP35 NUP210 NDC1 AAAS
6 regulation of gene silencing by miRNA GO:0060964 9.77 NUP62 NUP35 NUP210 NDC1 AAAS
7 regulation of cellular response to heat GO:1900034 9.72 NUP62 NUP35 NUP210 NDC1 AAAS
8 steroid biosynthetic process GO:0006694 9.71 STAR NR0B1 CYP11B1
9 nucleocytoplasmic transport GO:0006913 9.65 NUP62 NUP35 AAAS
10 protein sumoylation GO:0016925 9.65 NUP62 NUP35 NUP210 NDC1 AAAS
11 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR CYP11B1
12 intracellular transport of virus GO:0075733 9.55 NUP62 NUP35 NUP210 NDC1 AAAS
13 nuclear pore organization GO:0006999 9.52 NUP35 NDC1
14 DNA ligation GO:0006266 9.51 LIG1 APTX
15 regulation of glycolytic process GO:0006110 9.35 NUP62 NUP35 NUP210 NDC1 AAAS
16 tRNA export from nucleus GO:0006409 9.02 NUP62 NUP35 NUP210 NDC1 AAAS

Molecular functions related to Achalasia-Addisonianism-Alacrima Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 9.13 NUP35 MCM4 APTX
2 structural constituent of nuclear pore GO:0017056 8.8 NUP62 NUP35 NDC1

Sources for Achalasia-Addisonianism-Alacrima Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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